Thyroid hormone resistance

Thyroid hormone resistance (THR) is a rare genetic disorder characterized by a reduced responsiveness of target tissues to thyroid hormone. It is a type of thyroid disease that is usually inherited in an autosomal dominant manner, although autosomal recessive and sporadic cases have also been reported.

Symptoms and Signs

The symptoms of thyroid hormone resistance can vary widely, ranging from no symptoms at all (asymptomatic) to severe intellectual disability and growth retardation. Some individuals may have an enlarged thyroid gland (goiter), while others may have normal or slightly elevated levels of thyroid hormones in the blood.

Causes

Thyroid hormone resistance is caused by mutations in the THRB gene or the THRA gene. These genes provide instructions for making proteins that bind to thyroid hormone and help regulate the activity of many different types of cells in the body. Mutations in these genes disrupt the normal function of these proteins, leading to a reduced responsiveness of cells to thyroid hormone.

Diagnosis

The diagnosis of thyroid hormone resistance is based on the clinical symptoms, blood tests showing elevated levels of thyroid hormones, and genetic testing confirming the presence of a mutation in the THRB or THRA gene.

Treatment

The treatment for thyroid hormone resistance is aimed at managing the symptoms and preventing complications. This may include thyroid hormone replacement therapy to normalize thyroid hormone levels in the blood.

See also

• Thyroid
• Thyroid hormone
• Thyroid disease
• Genetic disorder

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